Canonical Allele Identifier: CA349512608

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417389C>A (hg19) ; chr2:g.178552662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552662C>A , CM000664.2:g.178552662C>A	GRCh38
NC_000002.11:g.179417389C>A , CM000664.1:g.179417389C>A	GRCh37
NC_000002.10:g.179125635C>A	NCBI36
NG_011618.3:g.283141G>T , LRG_391:g.283141G>T
NG_051363.1:g.34836C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82534G>T (TTN)	ENSP00000343764.6:p.Ala27512Ser
ENST00000342175.11:c.63619G>T (TTN)	ENSP00000340554.6:p.Ala21207Ser
ENST00000359218.10:c.63418G>T (TTN)	ENSP00000352154.5:p.Ala21140Ser
ENST00000342175.10:c.63619G>T (TTN)	ENSP00000340554.6:p.Ala21207Ser
ENST00000342992.10:c.82534G>T (TTN)	ENSP00000343764.6:p.Ala27512Ser
ENST00000359218.9:c.63418G>T (TTN)	ENSP00000352154.5:p.Ala21140Ser
ENST00000460472.6:c.63043G>T (TTN)	ENSP00000434586.1:p.Ala21015Ser
ENST00000589042.5:c.90238G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala30080Ser
ENST00000591111.5:c.85315G>T (TTN)	ENSP00000465570.1:p.Ala28439Ser
ENST00000615779.4:c.85315G>T (TTN)	ENSP00000483597.1:p.Ala28439Ser
NM_001256850.1:c.85315G>T (TTN)	NP_001243779.1:p.Ala28439Ser
NM_001267550.2:c.90238G>T (TTN) MANE Select	NP_001254479.2:p.Ala30080Ser
NM_003319.4:c.63043G>T (TTN)	NP_003310.4:p.Ala21015Ser
NM_133378.4:c.82534G>T (TTN)	NP_596869.4:p.Ala27512Ser
NM_133432.3:c.63418G>T (TTN)	NP_597676.3:p.Ala21140Ser
NM_133437.4:c.63619G>T (TTN)	NP_597681.4:p.Ala21207Ser
NR_038271.1:n.447-18638C>A (TTN-AS1)
NR_038272.1:n.2043+10301C>A (TTN-AS1)
XM_011511729.1:c.89335G>T (TTN)	XP_011510031.1:p.Ala29779Ser
XM_011511730.1:c.63229G>T (TTN)	XP_011510032.1:p.Ala21077Ser
XM_011511731.1:c.63088G>T (TTN)	XP_011510033.1:p.Ala21030Ser
XM_017004819.1:c.89131G>T (TTN)	XP_016860308.1:p.Ala29711Ser
XM_017004820.1:c.84529G>T (TTN)	XP_016860309.1:p.Ala28177Ser
XM_017004821.1:c.84526G>T (TTN)	XP_016860310.1:p.Ala28176Ser
XM_017004822.1:c.81568G>T (TTN)	XP_016860311.1:p.Ala27190Ser
XM_017004823.1:c.63184G>T (TTN)	XP_016860312.1:p.Ala21062Ser
XM_024453094.1:c.84679G>T (TTN)	XP_024308862.1:p.Ala28227Ser
XM_024453095.1:c.84676G>T (TTN)	XP_024308863.1:p.Ala28226Ser
XM_024453096.1:c.84109G>T (TTN)	XP_024308864.1:p.Ala28037Ser
XM_024453097.1:c.81451G>T (TTN)	XP_024308865.1:p.Ala27151Ser
XM_024453098.1:c.81370G>T (TTN)	XP_024308866.1:p.Ala27124Ser
XM_024453099.1:c.63133G>T (TTN)	XP_024308867.1:p.Ala21045Ser
XM_024453100.1:c.52987G>T (TTN)	XP_024308868.1:p.Ala17663Ser